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Phosphofructokinase Deficiency Details

Expanded Description

Phosphofructokinase Deficiency is a metabolic disorder causing muscle cramps and weakness during exercise.

Prevalence

0.0 ( Per 100,000 Population ) [Source]

Causes

No causes have been added yet.

Disorder Symptoms

The presenting features are fatigue and pain with exercise. There may be nausea and vomiting too. This usually starts in childhood and is worse after moderate or intense exercise. Myoglobinuria presents as dark urine and severe muscle cramps may follow vigorous exercise. * Carbohydrate-rich meals exacerbate the exercise intolerance. This is because glucose causes a reduction in circulating levels of free fatty acids that can act as an alternative substrate to glucose.5 * Patients with the late-onset form may have fixed muscle weakness. * The infantile form presents in the 1st year of life with death before the 4th birthday. Blindness and psychomotor retardation may be the presenting symptoms of the infantile-onset type. * The late-onset variant is manifest during later adulthood with progressive limb weakness but no myoglobinuria or cramps.

We don't have any symptoms yet.

Diagnosis

No diagnosis information has been added yet.

Diagnostic Tests

No diagnostic test information has been added yet.

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Disorder Treatments

No treatment information has been added yet

We don't have any treatments yet.

Prognosis

No prognosis information has been added yet

Tips for Living with the Disorder

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